Fig. 3.

Disruption of LAMP2 by a small microduplication. (a) Overview of all reported LAMP2 microdeletions (red) and microduplications (blue). Our patient’s duplication encompasses LAMP2 exons 4 and 5. B: Genomic PCR, which amplifies a novel junction fragment (*) in the patient (primer sites indicated with arrows); sequencing of this fragment situates the breakpoints within a 31bp region of high identity (red bar) between two flanking Alu repeats (data not shown). (c) The resulting spliced transcript contains an extra copy of exons 4 and 5 (344 coding bases), with an ensuing frameshift (fs). Arrows indicate primers used for RT-PCR shown in panel D. (d) RT-PCR (fibroblast RNA) yields a ~344bp larger product in the patient, consistent with the splicing scheme depicted in panel C